Association of apolipoprotein E allele ϵ4 with late‐onset familial and sporadic Alzheimer's disease

• DOI: 10.1212/wnl.43.8.1467
• Publication Date: 2012-05-13T13:08:51Z
• Authors: A. M. Saunders; W. J. Strittmatter; D. Schmechel; P. H. St. George-...; M. A. Pericak-Vance; S. H. Joo; B. L. Rosi; J. F. Gusella; D. R. Crapper-Mac...; M. J. Alberts; C. Hulette; B. Crain; D. Goldgaber; A. D. Roses
• Keywords: Apolipoprotein E; Pathogenesis

Apolipoprotein E, type ϵ4 allele (APOE ϵ4), is associated with late-onset familial Alzheimer9s disease (AD). There high avidity and specific binding of amyloid β-peptide the protein ApoE. To test hypothesis that AD may represent clustering sporadic in families large enough to be studied, we extended analyses APOE alleles several series patients. significantly a probable patients (0.36 ± 0.042, AD, versus 0.16 0.027, controls [allele frequency estimate standard error], <i>p</i> = 0.00031). Spouse did not differ from CEPH grandparent Centre d9Etude du Polymorphisme Humain (CEPH) or literature controls. A combined autopsy-documented also demonstrated highly significant association (0.40 0.026, ≤ 0.00001). These data support involvement ApoE pathogenesis AD. isoforms play an important role metabolism β-peptide, operate as susceptibility gene (risk factor) for clinical expression